Ataxia telangiectasia (A-T) is a rare, progressive, multisystem disease that has a large number of complex and diverse manifestations which vary with age. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer. Respiratory manifestations include immune dysfunction leading to recurrent upper and lower respiratory infections; aspiration resulting from dysfunctional swallowing due to neurodegenerative deficits; inefficient cough; and interstitial lung disease/pulmonary fibrosis. Malnutrition is a significant comorbidity. The increased radiosensitivity and increased risk of cancer should be borne in mind when requesting radiological investigations. Aggressive proactive monitoring and treatment of these various aspects of lung disease under multidisciplinary expertise in the experience of national multidisciplinary clinics internationally forms the basis of this statement on the management of lung disease in A-T. Neurological management is outwith the scope of this document.

In contrast to the severe deterioration of motor functioning in A-T, cognitive and language functioning appeared to level off with a typical profile of neuropsychological strengths and weaknesses. Based on our experiences with A-T, suggestions are made to determine a valid assessment of the cognitive and speech-language manifestations.

Children with neurological disabilities frequently have problems with feeding and swallowing. Such problems have a significant impact on the health and well-being of these children and their families. The primary aims in the rehabilitation of pediatric feeding and swallowing disorders are focused on supporting growth, nutrition and hydration, the development of feeding activities, and ensuring safe swallowing with the aim of preventing choking and aspiration pneumonia. Pediatric feeding and swallowing disorders can be divided into four groups: transient, developmental, chronic or progressive.This article provides an overview of the available literature about the rehabilitation of feeding and swallowing disorders in infants and children. Principles of motor control, motor learning and neuroplasticity are discussed for the four groups of children with feeding and swallowing disorders.

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Neurological and immunological contributions to lung disease in A-T require proactive and multidisciplinary management http://ow.ly/TqT44 Why indeed should we care? The answer is that ataxia telangiectasia (A-T) patients will present to respiratory paediatricians for diagnosis, when standard testing, if the diagnosis is not made, may do irreparable harm; and both adult and paediatric respiratory physicians will be involved in managing the respiratory disease, which is a major cause of morbidity and mortality. So there is a real “need to know” which is why the ERS convened a task force on A-T, whose findings are published in the European Respiratory Review [1]. A-T is an autosomal recessive, progressive, multisystem disease caused by mutations in the gene ATM (Ataxia-Telangiectasia Mutated) (11q22.3). This gene is expressed ubiquitously and encodes ATM kinase, a serine/threonine protein kinase, which is involved in signalling following cellular stress. It activates over a hundred proteins involved in the DNA damage response, cell cycle regulation and other pathways. ATM has important roles in neuroprotection, both adaptive and innate immunity, inflammatory responses, metabolism (e.g. insulin signalling), longevity and fertility. It has been estimated that a human cell is confronted with one million DNA lesions every day, placing DNA damage response mechanisms in a position of paramount importance. This has to be a very precise and efficient system to prevent cells with damaged DNA from dividing further or being passed on through germline mutation. The DNA double strand break (DSB) represents one of the most cytotoxic DNA lesions. DSBs can be generated by exposure to ionising radiation or various chemical compounds [2]. The Orphanet registry estimates the average prevalence of A-T to be 1 per 100 000 children [3]. A-T has a large number of other complex and diverse manifestations that vary with age. Neurological symptoms, particularly progressive cerebellar ataxia and abnormalities of the eye movements appear from an early age, and malignant disease is common. Some children first come to medical attention because of recurrent sino-pulmonary infections (which affect ∼50% of children with A-T). Oculocutaneous telangiectasia may not occur until 4 or 5 years of age, so this clue is not available in early life. Laboratory tests may show an elevated alpha-fetoprotein level, immunological deficiencies and chromosomal instability; one lesson is to have a low threshold for the measurement of alpha-fetoprotein as a screening test, especially in young children with infections plus another sign, especially drooling or ataxia. Patients with A-T die prematurely with the leading causes of death being respiratory diseases and cancer, hence the importance of receiving respiratory management right from the start. Also, it is good to consider the diagnosis before rather than after embarking on radiological investigations such as high-resolution computed tomography (HRCT), given the sensitivity of the patients to radiation. There is n...